Ch 53 WB Flashcards
A major congenital anomaly is found in _______ of every 100 births, and an additional 10% to 15% of births are complicated by minor birth defect
3
An ultrasound-directed biopsy of the placenta or chorionic villa (chorion frondosum) is _______.
CVS
A specialized prenatal test that permits direct viewing of the developing embryo using a transcervical endoscope inserted into the extracoelomic cavity during the first trimester of pregnancy is _______.
embryoscopy
The technique first used to relieve poly, to predict RH isoimmunizatoion, and to document fetal lung maturity is _______.
aminocentesis
Another method in which chromosomes are analyzes is _______.
cordocentesis
The amniocentesis tecnhique for multiple gestation is similar to the singleton method, except that _______ fetal sac is entered.
each
The major protein in fetal serum that is also produced by the yolk sac in early gestation and later by the fetal liver is _______.
alpha-feta protein
AFP is transported into the _______ by fetal urination and reaches maternal circulation or blood through the fetal membranes.
amniotic fluid
Common reasons for high AFP levels are _______, such as anencephaly and open spina bifida.
neral tube defects
Two common abd wall defects, _______ and _______, produce elevations of AFP.
omphalocele, gastroschisis
It is expected that the AFP level in a twin pregnancy will be _______ that of a singleton pregnancy.
twice
The quadruple screen was formerly known as the triple test to triple screen; this biochemical screening test combined three serum markers: _______, _______ and _______, plus another maternal serum markers, dimeric inhibin..
AFP, HcG, estroil
A normal karyotype consists of _______ chromosomes, _______ pairs of autosomes, and a pair of sex chromosomes.
46, 23
An abnormality of the number of chromosomes is _______.
aneuploidy
One of the most common aneuplid conditions is _______syndrome, in which an individual has an extra chromosome number 21.
Downs
An inherited dominant disorder carriers a _______% chance that each time pregnancy occurs, the fetus will have the condition.
50
A recessive disorder is caused by a pair of defective genes, one inherited from each parent. With each pregnancy, the parents have a _______% chance of having a fetus with the disorder.
25
X-linked disorders are inherited by _______ from their mothers.
boys
Each of the _______ of the female carriers of Xlinked disorders has a 50% chance of being affected, and each of the _______ has a 50% chance of being a carrier.
sons, daughters
An abnormal even that arises because of the interaction of one or more genes and environmental factors is a _______ condition.
multifactoral
The occurrence of a gene mutation or chromosomal abnormality in a portion of an individuals cells is _______
mocasism
An abnormal fluid colection behind the fetal neck has been strongly assocaited with _______.
aneuploidy
A nuchal translucency of _______ mm or greater has been used to define an abnormal thickness.
3
The translucency should be oriented perpendicular to the ultrasound beam, and the measurement should be taken from the inside of the fetal _______ to inside the _______ membrane.
neck, nuchal
A measurement of _______ mm increases the risk of aneuploidy four times, and nuchal translucencies of _______ mm and greater carry and even greater risk.
3, 4
List the anomlies associated with Down’s Syndrome
Absent nasal bones (hypoplastic nose) Brachycephaly Clinodactyly Duodenal atresia Echogenic intracardiac focus Hyperechoic bowel Macroglossia Mild hydrocephalus Nuchal thickening >/= 6mm between 16 and 20 weeks Thickened nuchal translucency Pericardial effusion Pyelectasis Sandal gap Shortened limb VSD’s Widened pelvic angles
List the anomlies associated with 18
Strawberry shaped skull Agenesis of the corpus callosum Choroid plexus cyst Hypoplastic cerebellum Enlarged cisterna magna Micrognathia Small, low-set ears Esophageal atresia Spina bifida Clenched hands, overlapping index finger, fixed wrists Cardiac defects Omphalocele Diaphragmatic hernia Renal anomalies Single umbilical artery Feet abnormalities
List the anomlies associated with 13
Microcephaly Polydactyly Holoprosencephaly Ventriculomegaly Agenesis of the corpus callosum Small, low set ears Facial anomalies(cyclopia, cleft lip, cleft palate) Cardiac defects Omphalocele Renal anomalies Single umbilical artery Clubfeet
List the anomlies associated with troploidy
Holoprosencephaly Dandy-Walker malformation Agenesis of the corpus callosum Hydrocephalus Facial abnormalites (microphtalmia and micrognathia Small, low set ears Cardiac defects Renal anomalies IUGR Omphalocele Single umbilical artery Syndactyly (third and fourth fingers Clubfeet
A genetic abnormality marked by absence of the X or Y chromosomes is ________.
Turner’s
The most pathognomic finding for the above disorder is __________, Other physical features incluide cardiac anomlies, which are commonly present, with _______ being the most common.
Cystic hygroma, coartation of aorta
Alpha-fetoprotein
protein manufactured by the fetus, which can be studied in amniotic fluid and maternal serum
amniocentesis
transabdominal removal of amniotic fluid from the amniotic cavity using ultrasound
cystic hygroma
dilation of jugular lymph sacs caused by improper drainage of the lymphatic system into the venous system
hypertelorism
Abnormally wide-spaced orbits usually found in conjunction with congenital anomalies and mental retardation
hypoplasia
underdevelopment of a tissue, organ or body
hypotelorism
abnormally closely spaced orbits; associated with holoprosencephaly, chromosomal and CNS, and cleft palate
IUGR
decreased rate of fetal growth, usually fetal weight below the 10th percentile for a given gestational age
micrognathia
abnormally small chin; commonly associated with other fetal anomalies
omphalocele
anterior abd wall defect in which abd organs are atypically located within the umbilical cord; highly associated with cardiac, CNS, renal, and chromomal anomalies
TORCH
TOxoplasmosis
Rubella
Cytomegalovirus
Herpesvirus type 2
